Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.44951960_44951963delinsGACACA2300140791SETBP1c.2620_2623delinsGACA (p.Asp874=)
c.2698_2701delinsGACA (p.Asp900=)
c.2143_2146delinsGACA (p.Asp715=)
18g.44951961A=CA2300140792SETBP1c.2621A= (p.Asp874=)
c.2699A= (p.Asp900=)
c.2144A= (p.Asp715=)
18g.44951961A>CCA402321840SETBP1c.2621A>C (p.Asp874Ala)
c.2699A>C (p.Asp900Ala)
c.2144A>C (p.Asp715Ala)
18g.44951961A>GCA402321841SETBP1c.2621A>G (p.Asp874Gly)
c.2699A>G (p.Asp900Gly)
c.2144A>G (p.Asp715Gly)
 ClinVar dbSNP
18g.44951961A>TCA402321842SETBP1c.2621A>T (p.Asp874Val)
c.2699A>T (p.Asp900Val)
c.2144A>T (p.Asp715Val)
18g.44951967_44951969delCA299698629SETBP1c.2627_2629del (p.Asn876del)
c.2705_2707del (p.Asn902del)
c.2150_2152del (p.Asn717del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.44951962C>ACA402321843SETBP1c.2622C>A (p.Asp874Glu)
c.2700C>A (p.Asp900Glu)
c.2145C>A (p.Asp715Glu)
18g.44951962C>GCA402321844SETBP1c.2622C>G (p.Asp874Glu)
c.2700C>G (p.Asp900Glu)
c.2145C>G (p.Asp715Glu)
18g.44951962C>TCA503982159SETBP1c.2622C>T (p.Asp874=)
c.2700C>T (p.Asp900=)
c.2145C>T (p.Asp715=)
 ClinVar dbSNP gnomAD v4
18g.44951963A>CCA402321845SETBP1c.2623A>C (p.Asn875His)
c.2701A>C (p.Asn901His)
c.2146A>C (p.Asn716His)
18g.44951963A>GCA402321846SETBP1c.2623A>G (p.Asn875Asp)
c.2701A>G (p.Asn901Asp)
c.2146A>G (p.Asn716Asp)
18g.44951963A>TCA402321847SETBP1c.2623A>T (p.Asn875Tyr)
c.2701A>T (p.Asn901Tyr)
c.2146A>T (p.Asn716Tyr)
18g.44951964A=CA2300140793SETBP1c.2624A= (p.Asn875=)
c.2702A= (p.Asn901=)
c.2147A= (p.Asn716=)
18g.44951964A>CCA402321848SETBP1c.2624A>C (p.Asn875Thr)
c.2702A>C (p.Asn901Thr)
c.2147A>C (p.Asn716Thr)
18g.44951964A>GCA402321849SETBP1c.2624A>G (p.Asn875Ser)
c.2702A>G (p.Asn901Ser)
c.2147A>G (p.Asn716Ser)
 dbSNP
18g.44951964A>TCA402321850SETBP1c.2624A>T (p.Asn875Ile)
c.2702A>T (p.Asn901Ile)
c.2147A>T (p.Asn716Ile)
18g.44951965C>ACA402321851SETBP1c.2625C>A (p.Asn875Lys)
c.2703C>A (p.Asn901Lys)
c.2148C>A (p.Asn716Lys)
18g.44951965C>GCA402321852SETBP1c.2625C>G (p.Asn875Lys)
c.2703C>G (p.Asn901Lys)
c.2148C>G (p.Asn716Lys)
18g.44951965C>TCA503982161SETBP1c.2625C>T (p.Asn875=)
c.2703C>T (p.Asn901=)
c.2148C>T (p.Asn716=)
 gnomAD v3 gnomAD v4
18g.44951966A>CCA402321853SETBP1c.2626A>C (p.Asn876His)
c.2704A>C (p.Asn902His)
c.2149A>C (p.Asn717His)
18g.44951966A>GCA402321854SETBP1c.2626A>G (p.Asn876Asp)
c.2704A>G (p.Asn902Asp)
c.2149A>G (p.Asn717Asp)
18g.44951966A>TCA402321855SETBP1c.2626A>T (p.Asn876Tyr)
c.2704A>T (p.Asn902Tyr)
c.2149A>T (p.Asn717Tyr)
18g.44951967A=CA2300140794SETBP1c.2627A= (p.Asn876=)
c.2705A= (p.Asn902=)
c.2150A= (p.Asn717=)
18g.44951967A>CCA402321856SETBP1c.2627A>C (p.Asn876Thr)
c.2705A>C (p.Asn902Thr)
c.2150A>C (p.Asn717Thr)
18g.44951967A>GCA402321857SETBP1c.2627A>G (p.Asn876Ser)
c.2705A>G (p.Asn902Ser)
c.2150A>G (p.Asn717Ser)
 dbSNP gnomAD v4
18g.44951967A>TCA402321858SETBP1c.2627A>T (p.Asn876Ile)
c.2705A>T (p.Asn902Ile)
c.2150A>T (p.Asn717Ile)
18g.44951968C>ACA402321859SETBP1c.2628C>A (p.Asn876Lys)
c.2706C>A (p.Asn902Lys)
c.2151C>A (p.Asn717Lys)
18g.44951968C>GCA402321860SETBP1c.2628C>G (p.Asn876Lys)
c.2706C>G (p.Asn902Lys)
c.2151C>G (p.Asn717Lys)
18g.44951968C>TCA503982163SETBP1c.2628C>T (p.Asn876=)
c.2706C>T (p.Asn902=)
c.2151C>T (p.Asn717=)
 gnomAD v4
18g.44951969A>CCA402321861SETBP1c.2629A>C (p.Ser877Arg)
c.2707A>C (p.Ser903Arg)
c.2152A>C (p.Ser718Arg)
18g.44951969A>GCA402321862SETBP1c.2629A>G (p.Ser877Gly)
c.2707A>G (p.Ser903Gly)
c.2152A>G (p.Ser718Gly)
18g.44951969A>TCA402321863SETBP1c.2629A>T (p.Ser877Cys)
c.2707A>T (p.Ser903Cys)
c.2152A>T (p.Ser718Cys)
18g.44951970G>ACA402321864SETBP1c.2630G>A (p.Ser877Asn)
c.2708G>A (p.Ser903Asn)
c.2153G>A (p.Ser718Asn)
18g.44951970G>CCA402321865SETBP1c.2630G>C (p.Ser877Thr)
c.2708G>C (p.Ser903Thr)
c.2153G>C (p.Ser718Thr)
18g.44951970G>TCA402321866SETBP1c.2630G>T (p.Ser877Ile)
c.2708G>T (p.Ser903Ile)
c.2153G>T (p.Ser718Ile)
18g.44951971C>ACA402321867SETBP1c.2631C>A (p.Ser877Arg)
c.2709C>A (p.Ser903Arg)
c.2154C>A (p.Ser718Arg)
18g.44951971C=CA2300140795SETBP1c.2631C= (p.Ser877=)
c.2709C= (p.Ser903=)
c.2154C= (p.Ser718=)
18g.44951971C>GCA402321868SETBP1c.2631C>G (p.Ser877Arg)
c.2709C>G (p.Ser903Arg)
c.2154C>G (p.Ser718Arg)
18g.44951971C>TCA503982166SETBP1c.2631C>T (p.Ser877=)
c.2709C>T (p.Ser903=)
c.2154C>T (p.Ser718=)
 dbSNP gnomAD v4
18g.44951972A=CA2300140796SETBP1c.2632A= (p.Thr878=)
c.2710A= (p.Thr904=)
c.2155A= (p.Thr719=)
18g.44951972A>CCA402321869SETBP1c.2632A>C (p.Thr878Pro)
c.2710A>C (p.Thr904Pro)
c.2155A>C (p.Thr719Pro)
18g.44951972A>GCA402321870SETBP1c.2632A>G (p.Thr878Ala)
c.2710A>G (p.Thr904Ala)
c.2155A>G (p.Thr719Ala)
 dbSNP gnomAD v2 gnomAD v4
18g.44951972A>TCA402321871SETBP1c.2632A>T (p.Thr878Ser)
c.2710A>T (p.Thr904Ser)
c.2155A>T (p.Thr719Ser)
18g.44951973C>ACA402321872SETBP1c.2633C>A (p.Thr878Asn)
c.2711C>A (p.Thr904Asn)
c.2156C>A (p.Thr719Asn)
18g.44951973C>GCA402321874SETBP1c.2633C>G (p.Thr878Ser)
c.2711C>G (p.Thr904Ser)
c.2156C>G (p.Thr719Ser)
18g.44951973C>TCA402321873SETBP1c.2633C>T (p.Thr878Ile)
c.2711C>T (p.Thr904Ile)
c.2156C>T (p.Thr719Ile)
18g.44951974T>ACA503982169SETBP1c.2634T>A (p.Thr878=)
c.2712T>A (p.Thr904=)
c.2157T>A (p.Thr719=)
18g.44951974T>CCA503982168SETBP1c.2634T>C (p.Thr878=)
c.2712T>C (p.Thr904=)
c.2157T>C (p.Thr719=)
18g.44951974T>GCA503982167SETBP1c.2634T>G (p.Thr878=)
c.2712T>G (p.Thr904=)
c.2157T>G (p.Thr719=)
18g.44951974_44951982delCA2518970731SETBP1c.2634_2642del (p.Ser879_Gln881del)
c.2712_2720del (p.Ser905_Gln907del)
c.2157_2165del (p.Ser720_Gln722del)
18g.44951975T>ACA402321875SETBP1c.2635T>A (p.Ser879Thr)
c.2713T>A (p.Ser905Thr)
c.2158T>A (p.Ser720Thr)
18g.44951975T>CCA402321877SETBP1c.2635T>C (p.Ser879Pro)
c.2713T>C (p.Ser905Pro)
c.2158T>C (p.Ser720Pro)
18g.44951975T>GCA402321876SETBP1c.2635T>G (p.Ser879Ala)
c.2713T>G (p.Ser905Ala)
c.2158T>G (p.Ser720Ala)
18g.44951976C>ACA402321878SETBP1c.2636C>A (p.Ser879Tyr)
c.2714C>A (p.Ser905Tyr)
c.2159C>A (p.Ser720Tyr)
18g.44951976C>GCA402321880SETBP1c.2636C>G (p.Ser879Cys)
c.2714C>G (p.Ser905Cys)
c.2159C>G (p.Ser720Cys)
18g.44951976C>TCA402321879SETBP1c.2636C>T (p.Ser879Phe)
c.2714C>T (p.Ser905Phe)
c.2159C>T (p.Ser720Phe)
18g.44951977T>ACA503982170SETBP1c.2637T>A (p.Ser879=)
c.2715T>A (p.Ser905=)
c.2160T>A (p.Ser720=)
18g.44951977T>CCA503982171SETBP1c.2637T>C (p.Ser879=)
c.2715T>C (p.Ser905=)
c.2160T>C (p.Ser720=)
18g.44951977T>GCA503982172SETBP1c.2637T>G (p.Ser879=)
c.2715T>G (p.Ser905=)
c.2160T>G (p.Ser720=)
18g.44951977_44951978insTTCATGAAAACTTATAATGGGGGTATTTCTATAAGGTAGGGGTGTCTCCCTGGGATTGAGCTGAAGCCACA8945767SETBP1c.2637_2638insTTCATGAAAACTTATAATGGGGGTATTTCTATAAGGTAGGGGTGTCTCCCTGGGATTGAGCTGAAGCCA
c.2715_2716insTTCATGAAAACTTATAATGGGGGTATTTCTATAAGGTAGGGGTGTCTCCCTGGGATTGAGCTGAAGCCA
c.2160_2161insTTCATGAAAACTTATAATGGGGGTATTTCTATAAGGTAGGGGTGTCTCCCTGGGATTGAGCTGAAGCCA
 ExAC
18g.44951978G>ACA402321881SETBP1c.2638G>A (p.Asp880Asn)
c.2716G>A (p.Asp906Asn)
c.2161G>A (p.Asp721Asn)
 COSMIC
18g.44951978G>CCA402321882SETBP1c.2638G>C (p.Asp880His)
c.2716G>C (p.Asp906His)
c.2161G>C (p.Asp721His)
18g.44951978G>TCA402321883SETBP1c.2638G>T (p.Asp880Tyr)
c.2716G>T (p.Asp906Tyr)
c.2161G>T (p.Asp721Tyr)
18g.44951979A>CCA402321884SETBP1c.2639A>C (p.Asp880Ala)
c.2717A>C (p.Asp906Ala)
c.2162A>C (p.Asp721Ala)
18g.44951979A>GCA402321885SETBP1c.2639A>G (p.Asp880Gly)
c.2717A>G (p.Asp906Gly)
c.2162A>G (p.Asp721Gly)
18g.44951979A>TCA402321886SETBP1c.2639A>T (p.Asp880Val)
c.2717A>T (p.Asp906Val)
c.2162A>T (p.Asp721Val)
18g.44951980C>ACA402321887SETBP1c.2640C>A (p.Asp880Glu)
c.2718C>A (p.Asp906Glu)
c.2163C>A (p.Asp721Glu)
 COSMIC
18g.44951980C=CA2300140797SETBP1c.2640C= (p.Asp880=)
c.2718C= (p.Asp906=)
c.2163C= (p.Asp721=)
18g.44951980C>GCA402321888SETBP1c.2640C>G (p.Asp880Glu)
c.2718C>G (p.Asp906Glu)
c.2163C>G (p.Asp721Glu)
18g.44951980C>TCA503982173SETBP1c.2640C>T (p.Asp880=)
c.2718C>T (p.Asp906=)
c.2163C>T (p.Asp721=)
 ClinVar dbSNP gnomAD v4
18g.44951981C>ACA402321889SETBP1c.2641C>A (p.Gln881Lys)
c.2719C>A (p.Gln907Lys)
c.2164C>A (p.Gln722Lys)
18g.44951981C>GCA402321890SETBP1c.2641C>G (p.Gln881Glu)
c.2719C>G (p.Gln907Glu)
c.2164C>G (p.Gln722Glu)
18g.44951981C>TCA402321891SETBP1c.2641C>T (p.Gln881Ter)
c.2719C>T (p.Gln907Ter)
c.2164C>T (p.Gln722Ter)
18g.44951982A>CCA402321892SETBP1c.2642A>C (p.Gln881Pro)
c.2720A>C (p.Gln907Pro)
c.2165A>C (p.Gln722Pro)
18g.44951982A>GCA402321894SETBP1c.2642A>G (p.Gln881Arg)
c.2720A>G (p.Gln907Arg)
c.2165A>G (p.Gln722Arg)
18g.44951982A>TCA402321893SETBP1c.2642A>T (p.Gln881Leu)
c.2720A>T (p.Gln907Leu)
c.2165A>T (p.Gln722Leu)
18g.44951983A=CA2300140798SETBP1c.2643A= (p.Gln881=)
c.2721A= (p.Gln907=)
c.2166A= (p.Gln722=)
18g.44951983A>CCA402321895SETBP1c.2643A>C (p.Gln881His)
c.2721A>C (p.Gln907His)
c.2166A>C (p.Gln722His)
18g.44951983A>GCA503982174SETBP1c.2643A>G (p.Gln881=)
c.2721A>G (p.Gln907=)
c.2166A>G (p.Gln722=)
18g.44951983A>TCA402321896SETBP1c.2643A>T (p.Gln881His)
c.2721A>T (p.Gln907His)
c.2166A>T (p.Gln722His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.44951984G>ACA402321897SETBP1c.2644G>A (p.Ala882Thr)
c.2722G>A (p.Ala908Thr)
c.2167G>A (p.Ala723Thr)
18g.44951984G>CCA402321898SETBP1c.2644G>C (p.Ala882Pro)
c.2722G>C (p.Ala908Pro)
c.2167G>C (p.Ala723Pro)
18g.44951984G>TCA402321899SETBP1c.2644G>T (p.Ala882Ser)
c.2722G>T (p.Ala908Ser)
c.2167G>T (p.Ala723Ser)
18g.44951985C>ACA402321900SETBP1c.2645C>A (p.Ala882Glu)
c.2723C>A (p.Ala908Glu)
c.2168C>A (p.Ala723Glu)
 dbSNP gnomAD v2 gnomAD v4
18g.44951985C=CA2300140799SETBP1c.2645C= (p.Ala882=)
c.2723C= (p.Ala908=)
c.2168C= (p.Ala723=)
18g.44951985C>GCA402321901SETBP1c.2645C>G (p.Ala882Gly)
c.2723C>G (p.Ala908Gly)
c.2168C>G (p.Ala723Gly)
18g.44951985C>TCA8945768SETBP1c.2645C>T (p.Ala882Val)
c.2723C>T (p.Ala908Val)
c.2168C>T (p.Ala723Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.44951986G>ACA8945769SETBP1c.2646G>A (p.Ala882=)
c.2724G>A (p.Ala908=)
c.2169G>A (p.Ala723=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.44951986G>CCA503982176SETBP1c.2646G>C (p.Ala882=)
c.2724G>C (p.Ala908=)
c.2169G>C (p.Ala723=)
18g.44951986G=CA2300140800SETBP1c.2646G= (p.Ala882=)
c.2724G= (p.Ala908=)
c.2169G= (p.Ala723=)
18g.44951986G>TCA503982175SETBP1c.2646G>T (p.Ala882=)
c.2724G>T (p.Ala908=)
c.2169G>T (p.Ala723=)
18g.44951987G>ACA402321903SETBP1c.2647G>A (p.Glu883Lys)
c.2725G>A (p.Glu909Lys)
c.2170G>A (p.Glu724Lys)
18g.44951987G>CCA402321904SETBP1c.2647G>C (p.Glu883Gln)
c.2725G>C (p.Glu909Gln)
c.2170G>C (p.Glu724Gln)
18g.44951987G>TCA402321902SETBP1c.2647G>T (p.Glu883Ter)
c.2725G>T (p.Glu909Ter)
c.2170G>T (p.Glu724Ter)
18g.44951988A>CCA402321905SETBP1c.2648A>C (p.Glu883Ala)
c.2726A>C (p.Glu909Ala)
c.2171A>C (p.Glu724Ala)
18g.44951988A>GCA402321906SETBP1c.2648A>G (p.Glu883Gly)
c.2726A>G (p.Glu909Gly)
c.2171A>G (p.Glu724Gly)
18g.44951988A>TCA402321907SETBP1c.2648A>T (p.Glu883Val)
c.2726A>T (p.Glu909Val)
c.2171A>T (p.Glu724Val)
18g.44951989G>ACA503982177SETBP1c.2649G>A (p.Glu883=)
c.2727G>A (p.Glu909=)
c.2172G>A (p.Glu724=)
 dbSNP gnomAD v2 gnomAD v4
18g.44951989G>CCA402321908SETBP1c.2649G>C (p.Glu883Asp)
c.2727G>C (p.Glu909Asp)
c.2172G>C (p.Glu724Asp)
18g.44951989G=CA2300140801SETBP1c.2649G= (p.Glu883=)
c.2727G= (p.Glu909=)
c.2172G= (p.Glu724=)
18g.44951989G>TCA402321909SETBP1c.2649G>T (p.Glu883Asp)
c.2727G>T (p.Glu909Asp)
c.2172G>T (p.Glu724Asp)
18g.44951990A>CCA402321912SETBP1c.2650A>C (p.Lys884Gln)
c.2728A>C (p.Lys910Gln)
c.2173A>C (p.Lys725Gln)
18g.44951990A>GCA402321910SETBP1c.2650A>G (p.Lys884Glu)
c.2728A>G (p.Lys910Glu)
c.2173A>G (p.Lys725Glu)
18g.44951990A>TCA402321911SETBP1c.2650A>T (p.Lys884Ter)
c.2728A>T (p.Lys910Ter)
c.2173A>T (p.Lys725Ter)
18g.44951991A>CCA402321913SETBP1c.2651A>C (p.Lys884Thr)
c.2729A>C (p.Lys910Thr)
c.2174A>C (p.Lys725Thr)
18g.44951991A>GCA402321914SETBP1c.2651A>G (p.Lys884Arg)
c.2729A>G (p.Lys910Arg)
c.2174A>G (p.Lys725Arg)
 gnomAD v4
18g.44951991A>TCA402321915SETBP1c.2651A>T (p.Lys884Met)
c.2729A>T (p.Lys910Met)
c.2174A>T (p.Lys725Met)
18g.44951992G>ACA503982178SETBP1c.2652G>A (p.Lys884=)
c.2730G>A (p.Lys910=)
c.2175G>A (p.Lys725=)
18g.44951992G>CCA402321916SETBP1c.2652G>C (p.Lys884Asn)
c.2730G>C (p.Lys910Asn)
c.2175G>C (p.Lys725Asn)
18g.44951992G>TCA402321917SETBP1c.2652G>T (p.Lys884Asn)
c.2730G>T (p.Lys910Asn)
c.2175G>T (p.Lys725Asn)
 COSMIC
18g.44951993A>CCA402321918SETBP1c.2653A>C (p.Ser885Arg)
c.2731A>C (p.Ser911Arg)
c.2176A>C (p.Ser726Arg)
18g.44951993A>GCA402321920SETBP1c.2653A>G (p.Ser885Gly)
c.2731A>G (p.Ser911Gly)
c.2176A>G (p.Ser726Gly)
18g.44951993A>TCA402321919SETBP1c.2653A>T (p.Ser885Cys)
c.2731A>T (p.Ser911Cys)
c.2176A>T (p.Ser726Cys)
18g.44951994G>ACA402321921SETBP1c.2654G>A (p.Ser885Asn)
c.2732G>A (p.Ser911Asn)
c.2177G>A (p.Ser726Asn)
 gnomAD v4
18g.44951994G>CCA402321922SETBP1c.2654G>C (p.Ser885Thr)
c.2732G>C (p.Ser911Thr)
c.2177G>C (p.Ser726Thr)
18g.44951994G>TCA402321923SETBP1c.2654G>T (p.Ser885Ile)
c.2732G>T (p.Ser911Ile)
c.2177G>T (p.Ser726Ile)
18g.44951995C>ACA402321924SETBP1c.2655C>A (p.Ser885Arg)
c.2733C>A (p.Ser911Arg)
c.2178C>A (p.Ser726Arg)
18g.44951995C=CA2300140802SETBP1c.2655C= (p.Ser885=)
c.2733C= (p.Ser911=)
c.2178C= (p.Ser726=)
18g.44951995C>GCA8945770SETBP1c.2655C>G (p.Ser885Arg)
c.2733C>G (p.Ser911Arg)
c.2178C>G (p.Ser726Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.44951995C>TCA503982179SETBP1c.2655C>T (p.Ser885=)
c.2733C>T (p.Ser911=)
c.2178C>T (p.Ser726=)
 dbSNP gnomAD v3 gnomAD v4
18g.44951996T>ACA402321925SETBP1c.2656T>A (p.Ser886Thr)
c.2734T>A (p.Ser912Thr)
c.2179T>A (p.Ser727Thr)
18g.44951996T>CCA402321926SETBP1c.2656T>C (p.Ser886Pro)
c.2734T>C (p.Ser912Pro)
c.2179T>C (p.Ser727Pro)
 dbSNP
18g.44951996T>GCA402321927SETBP1c.2656T>G (p.Ser886Ala)
c.2734T>G (p.Ser912Ala)
c.2179T>G (p.Ser727Ala)
18g.44951996T=CA2300140803SETBP1c.2656T= (p.Ser886=)
c.2734T= (p.Ser912=)
c.2179T= (p.Ser727=)
18g.44951997C>ACA402321928SETBP1c.2657C>A (p.Ser886Ter)
c.2735C>A (p.Ser912Ter)
c.2180C>A (p.Ser727Ter)
18g.44951997C>GCA402321929SETBP1c.2657C>G (p.Ser886Ter)
c.2735C>G (p.Ser912Ter)
c.2180C>G (p.Ser727Ter)
18g.44951997C>TCA402321930SETBP1c.2657C>T (p.Ser886Leu)
c.2735C>T (p.Ser912Leu)
c.2180C>T (p.Ser727Leu)
 gnomAD v4 COSMIC
18g.44951998A>CCA503982180SETBP1c.2658A>C (p.Ser886=)
c.2736A>C (p.Ser912=)
c.2181A>C (p.Ser727=)
18g.44951998A>GCA503982181SETBP1c.2658A>G (p.Ser886=)
c.2736A>G (p.Ser912=)
c.2181A>G (p.Ser727=)
18g.44951998A>TCA503982182SETBP1c.2658A>T (p.Ser886=)
c.2736A>T (p.Ser912=)
c.2181A>T (p.Ser727=)
18g.44951999G>ACA402321932SETBP1c.2659G>A (p.Glu887Lys)
c.2737G>A (p.Glu913Lys)
c.2182G>A (p.Glu728Lys)
18g.44951999G>CCA402321933SETBP1c.2659G>C (p.Glu887Gln)
c.2737G>C (p.Glu913Gln)
c.2182G>C (p.Glu728Gln)
18g.44951999G>TCA402321931SETBP1c.2659G>T (p.Glu887Ter)
c.2737G>T (p.Glu913Ter)
c.2182G>T (p.Glu728Ter)
18g.44952000A=CA2300140804SETBP1c.2660A= (p.Glu887=)
c.2738A= (p.Glu913=)
c.2183A= (p.Glu728=)
18g.44952000A>CCA402321934SETBP1c.2660A>C (p.Glu887Ala)
c.2738A>C (p.Glu913Ala)
c.2183A>C (p.Glu728Ala)
 ClinVar dbSNP
18g.44952000A>GCA402321935SETBP1c.2660A>G (p.Glu887Gly)
c.2738A>G (p.Glu913Gly)
c.2183A>G (p.Glu728Gly)
18g.44952000A>TCA402321936SETBP1c.2660A>T (p.Glu887Val)
c.2738A>T (p.Glu913Val)
c.2183A>T (p.Glu728Val)
18g.44952001A>CCA402321937SETBP1c.2661A>C (p.Glu887Asp)
c.2739A>C (p.Glu913Asp)
c.2184A>C (p.Glu728Asp)
18g.44952001A>GCA503982183SETBP1c.2661A>G (p.Glu887=)
c.2739A>G (p.Glu913=)
c.2184A>G (p.Glu728=)
18g.44952001A>TCA402321938SETBP1c.2661A>T (p.Glu887Asp)
c.2739A>T (p.Glu913Asp)
c.2184A>T (p.Glu728Asp)
18g.44952002T>ACA402321941SETBP1c.2662T>A (p.Ser888Thr)
c.2740T>A (p.Ser914Thr)
c.2185T>A (p.Ser729Thr)
18g.44952002T>CCA402321940SETBP1c.2662T>C (p.Ser888Pro)
c.2740T>C (p.Ser914Pro)
c.2185T>C (p.Ser729Pro)
18g.44952002T>GCA402321939SETBP1c.2662T>G (p.Ser888Ala)
c.2740T>G (p.Ser914Ala)
c.2185T>G (p.Ser729Ala)
18g.44952003C>ACA402321942SETBP1c.2663C>A (p.Ser888Tyr)
c.2741C>A (p.Ser914Tyr)
c.2186C>A (p.Ser729Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.44952003C=CA2300140805SETBP1c.2663C= (p.Ser888=)
c.2741C= (p.Ser914=)
c.2186C= (p.Ser729=)
18g.44952003C>GCA402321943SETBP1c.2663C>G (p.Ser888Cys)
c.2741C>G (p.Ser914Cys)
c.2186C>G (p.Ser729Cys)
 dbSNP
18g.44952003C>TCA402321944SETBP1c.2663C>T (p.Ser888Phe)
c.2741C>T (p.Ser914Phe)
c.2186C>T (p.Ser729Phe)
 gnomAD v4
18g.44952004C>ACA503982184SETBP1c.2664C>A (p.Ser888=)
c.2742C>A (p.Ser914=)
c.2187C>A (p.Ser729=)
18g.44952004C=CA2300140806SETBP1c.2664C= (p.Ser888=)
c.2742C= (p.Ser914=)
c.2187C= (p.Ser729=)
18g.44952004C>GCA503982185SETBP1c.2664C>G (p.Ser888=)
c.2742C>G (p.Ser914=)
c.2187C>G (p.Ser729=)
 gnomAD v4
18g.44952004C>TCA8945771SETBP1c.2664C>T (p.Ser888=)
c.2742C>T (p.Ser914=)
c.2187C>T (p.Ser729=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.44952005C>ACA503982186SETBP1c.2665C>A (p.Arg889=)
c.2743C>A (p.Arg915=)
c.2188C>A (p.Arg730=)
 gnomAD v4
18g.44952005C=CA2300140807SETBP1c.2665C= (p.Arg889=)
c.2743C= (p.Arg915=)
c.2188C= (p.Arg730=)
18g.44952005C>GCA402321945SETBP1c.2665C>G (p.Arg889Gly)
c.2743C>G (p.Arg915Gly)
c.2188C>G (p.Arg730Gly)
 gnomAD v4
18g.44952005C>TCA402321946SETBP1c.2665C>T (p.Arg889Ter)
c.2743C>T (p.Arg915Ter)
c.2188C>T (p.Arg730Ter)
 ClinVar dbSNP
18g.44952006G>ACA8945772SETBP1c.2666G>A (p.Arg889Gln)
c.2744G>A (p.Arg915Gln)
c.2189G>A (p.Arg730Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.44952006G>CCA402321947SETBP1c.2666G>C (p.Arg889Pro)
c.2744G>C (p.Arg915Pro)
c.2189G>C (p.Arg730Pro)
 dbSNP
18g.44952006G=CA2300140808SETBP1c.2666G= (p.Arg889=)
c.2744G= (p.Arg915=)
c.2189G= (p.Arg730=)
18g.44952006G>TCA402321948SETBP1c.2666G>T (p.Arg889Leu)
c.2744G>T (p.Arg915Leu)
c.2189G>T (p.Arg730Leu)
18g.44952007A>CCA503982187SETBP1c.2667A>C (p.Arg889=)
c.2745A>C (p.Arg915=)
c.2190A>C (p.Arg730=)
18g.44952007A>GCA503982188SETBP1c.2667A>G (p.Arg889=)
c.2745A>G (p.Arg915=)
c.2190A>G (p.Arg730=)
18g.44952007A>TCA503982189SETBP1c.2667A>T (p.Arg889=)
c.2745A>T (p.Arg915=)
c.2190A>T (p.Arg730=)
18g.44952008A>CCA503982190SETBP1c.2668A>C (p.Arg890=)
c.2746A>C (p.Arg916=)
c.2191A>C (p.Arg731=)
18g.44952008A>GCA402321949SETBP1c.2668A>G (p.Arg890Gly)
c.2746A>G (p.Arg916Gly)
c.2191A>G (p.Arg731Gly)
 ClinVar
18g.44952008A>TCA402321950SETBP1c.2668A>T (p.Arg890Trp)
c.2746A>T (p.Arg916Trp)
c.2191A>T (p.Arg731Trp)
18g.44952009G>ACA402321951SETBP1c.2669G>A (p.Arg890Lys)
c.2747G>A (p.Arg916Lys)
c.2192G>A (p.Arg731Lys)
18g.44952009G>CCA402321952SETBP1c.2669G>C (p.Arg890Thr)
c.2747G>C (p.Arg916Thr)
c.2192G>C (p.Arg731Thr)
18g.44952009G>TCA402321953SETBP1c.2669G>T (p.Arg890Met)
c.2747G>T (p.Arg916Met)
c.2192G>T (p.Arg731Met)
18g.44952010G>ACA299698655SETBP1c.2670G>A (p.Arg890=)
c.2748G>A (p.Arg916=)
c.2193G>A (p.Arg731=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.44952010G>CCA402321954SETBP1c.2670G>C (p.Arg890Ser)
c.2748G>C (p.Arg916Ser)
c.2193G>C (p.Arg731Ser)
18g.44952010G=CA2300140809SETBP1c.2670G= (p.Arg890=)
c.2748G= (p.Arg916=)
c.2193G= (p.Arg731=)
18g.44952010G>TCA402321955SETBP1c.2670G>T (p.Arg890Ser)
c.2748G>T (p.Arg916Ser)
c.2193G>T (p.Arg731Ser)
18g.44952010_44952011delinsGACA2300140810SETBP1c.2670_2671delinsGA (p.Arg890=)
c.2748_2749delinsGA (p.Arg916=)
c.2193_2194delinsGA (p.Arg731=)
18g.44952011delCA1139666046SETBP1c.2671del (p.Arg891GlyfsTer?)
c.2749del (p.Arg917GlyfsTer?)
c.2194del (p.Arg732GlyfsTer?)
 ClinVar dbSNP
18g.44952011A>CCA503982191SETBP1c.2671A>C (p.Arg891=)
c.2749A>C (p.Arg917=)
c.2194A>C (p.Arg732=)
18g.44952011A>GCA402321956SETBP1c.2671A>G (p.Arg891Gly)
c.2749A>G (p.Arg917Gly)
c.2194A>G (p.Arg732Gly)
18g.44952011A>TCA402321957SETBP1c.2671A>T (p.Arg891Trp)
c.2749A>T (p.Arg917Trp)
c.2194A>T (p.Arg732Trp)
18g.44952012G>ACA8945774SETBP1c.2672G>A (p.Arg891Lys)
c.2750G>A (p.Arg917Lys)
c.2195G>A (p.Arg732Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.44952012G>CCA402321958SETBP1c.2672G>C (p.Arg891Thr)
c.2750G>C (p.Arg917Thr)
c.2195G>C (p.Arg732Thr)
 gnomAD v4
18g.44952012G=CA2300140811SETBP1c.2672G= (p.Arg891=)
c.2750G= (p.Arg917=)
c.2195G= (p.Arg732=)
18g.44952012G>TCA8945773SETBP1c.2672G>T (p.Arg891Met)
c.2750G>T (p.Arg917Met)
c.2195G>T (p.Arg732Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.44952013G>ACA8945775SETBP1c.2673G>A (p.Arg891=)
c.2751G>A (p.Arg917=)
c.2196G>A (p.Arg732=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.44952013G>CCA402321960SETBP1c.2673G>C (p.Arg891Ser)
c.2751G>C (p.Arg917Ser)
c.2196G>C (p.Arg732Ser)
18g.44952013G=CA2300140812SETBP1c.2673G= (p.Arg891=)
c.2751G= (p.Arg917=)
c.2196G= (p.Arg732=)
18g.44952013G>TCA402321959SETBP1c.2673G>T (p.Arg891Ser)
c.2751G>T (p.Arg917Ser)
c.2196G>T (p.Arg732Ser)
18g.44952014T>ACA402321961SETBP1c.2674T>A (p.Tyr892Asn)
c.2752T>A (p.Tyr918Asn)
c.2197T>A (p.Tyr733Asn)
18g.44952014T>CCA402321962SETBP1c.2674T>C (p.Tyr892His)
c.2752T>C (p.Tyr918His)
c.2197T>C (p.Tyr733His)
18g.44952014T>GCA402321963SETBP1c.2674T>G (p.Tyr892Asp)
c.2752T>G (p.Tyr918Asp)
c.2197T>G (p.Tyr733Asp)
18g.44952015A>CCA402321964SETBP1c.2675A>C (p.Tyr892Ser)
c.2753A>C (p.Tyr918Ser)
c.2198A>C (p.Tyr733Ser)
18g.44952015A>GCA402321965SETBP1c.2675A>G (p.Tyr892Cys)
c.2753A>G (p.Tyr918Cys)
c.2198A>G (p.Tyr733Cys)
18g.44952015A>TCA402321966SETBP1c.2675A>T (p.Tyr892Phe)
c.2753A>T (p.Tyr918Phe)
c.2198A>T (p.Tyr733Phe)
18g.44952016C>ACA402321967SETBP1c.2676C>A (p.Tyr892Ter)
c.2754C>A (p.Tyr918Ter)
c.2199C>A (p.Tyr733Ter)
18g.44952016C=CA2300140813SETBP1c.2676C= (p.Tyr892=)
c.2754C= (p.Tyr918=)
c.2199C= (p.Tyr733=)
18g.44952016C>GCA402321968SETBP1c.2676C>G (p.Tyr892Ter)
c.2754C>G (p.Tyr918Ter)
c.2199C>G (p.Tyr733Ter)
18g.44952016C>TCA8945776SETBP1c.2676C>T (p.Tyr892=)
c.2754C>T (p.Tyr918=)
c.2199C>T (p.Tyr733=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.44952017T>ACA402321969SETBP1c.2677T>A (p.Ser893Thr)
c.2755T>A (p.Ser919Thr)
c.2200T>A (p.Ser734Thr)
18g.44952017T>CCA402321970SETBP1c.2677T>C (p.Ser893Pro)
c.2755T>C (p.Ser919Pro)
c.2200T>C (p.Ser734Pro)
18g.44952017T>GCA402321971SETBP1c.2677T>G (p.Ser893Ala)
c.2755T>G (p.Ser919Ala)
c.2200T>G (p.Ser734Ala)
18g.44952018C>ACA402321974SETBP1c.2678C>A (p.Ser893Tyr)
c.2756C>A (p.Ser919Tyr)
c.2201C>A (p.Ser734Tyr)
 dbSNP
18g.44952018C=CA2300140814SETBP1c.2678C= (p.Ser893=)
c.2756C= (p.Ser919=)
c.2201C= (p.Ser734=)
18g.44952018C>GCA402321973SETBP1c.2678C>G (p.Ser893Cys)
c.2756C>G (p.Ser919Cys)
c.2201C>G (p.Ser734Cys)
18g.44952018C>TCA402321972SETBP1c.2678C>T (p.Ser893Phe)
c.2756C>T (p.Ser919Phe)
c.2201C>T (p.Ser734Phe)
18g.44952019T>ACA503982192SETBP1c.2679T>A (p.Ser893=)
c.2757T>A (p.Ser919=)
c.2202T>A (p.Ser734=)
18g.44952019T>CCA503982193SETBP1c.2679T>C (p.Ser893=)
c.2757T>C (p.Ser919=)
c.2202T>C (p.Ser734=)
18g.44952019T>GCA8945777SETBP1c.2679T>G (p.Ser893=)
c.2757T>G (p.Ser919=)
c.2202T>G (p.Ser734=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.44952019T=CA2300140815SETBP1c.2679T= (p.Ser893=)
c.2757T= (p.Ser919=)
c.2202T= (p.Ser734=)
18g.44952021_44952022delCA2573054660SETBP1c.2681_2682del (p.Phe894Ter)
c.2759_2760del (p.Phe920Ter)
c.2204_2205del (p.Phe735Ter)
 ClinVar dbSNP
18g.44952020T>ACA402321975SETBP1c.2680T>A (p.Phe894Ile)
c.2758T>A (p.Phe920Ile)
c.2203T>A (p.Phe735Ile)
18g.44952020T>CCA402321976SETBP1c.2680T>C (p.Phe894Leu)
c.2758T>C (p.Phe920Leu)
c.2203T>C (p.Phe735Leu)
18g.44952020T>GCA402321977SETBP1c.2680T>G (p.Phe894Val)
c.2758T>G (p.Phe920Val)
c.2203T>G (p.Phe735Val)
18g.44952021T>ACA402321978SETBP1c.2681T>A (p.Phe894Tyr)
c.2759T>A (p.Phe920Tyr)
c.2204T>A (p.Phe735Tyr)
18g.44952021T>CCA402321979SETBP1c.2681T>C (p.Phe894Ser)
c.2759T>C (p.Phe920Ser)
c.2204T>C (p.Phe735Ser)
18g.44952021T>GCA402321980SETBP1c.2681T>G (p.Phe894Cys)
c.2759T>G (p.Phe920Cys)
c.2204T>G (p.Phe735Cys)
18g.44952022T>ACA402321981SETBP1c.2682T>A (p.Phe894Leu)
c.2760T>A (p.Phe920Leu)
c.2205T>A (p.Phe735Leu)
18g.44952022T>CCA503982194SETBP1c.2682T>C (p.Phe894=)
c.2760T>C (p.Phe920=)
c.2205T>C (p.Phe735=)
18g.44952022T>GCA402321982SETBP1c.2682T>G (p.Phe894Leu)
c.2760T>G (p.Phe920Leu)
c.2205T>G (p.Phe735Leu)
18g.44952023G>ACA402321983SETBP1c.2683G>A (p.Asp895Asn)
c.2761G>A (p.Asp921Asn)
c.2206G>A (p.Asp736Asn)
18g.44952023G>CCA402321984SETBP1c.2683G>C (p.Asp895His)
c.2761G>C (p.Asp921His)
c.2206G>C (p.Asp736His)
18g.44952023G>TCA402321985SETBP1c.2683G>T (p.Asp895Tyr)
c.2761G>T (p.Asp921Tyr)
c.2206G>T (p.Asp736Tyr)
18g.44952024A>CCA402321988SETBP1c.2684A>C (p.Asp895Ala)
c.2762A>C (p.Asp921Ala)
c.2207A>C (p.Asp736Ala)
18g.44952024A>GCA402321987SETBP1c.2684A>G (p.Asp895Gly)
c.2762A>G (p.Asp921Gly)
c.2207A>G (p.Asp736Gly)
 COSMIC
18g.44952024A>TCA402321986SETBP1c.2684A>T (p.Asp895Val)
c.2762A>T (p.Asp921Val)
c.2207A>T (p.Asp736Val)
18g.44952025T>ACA402321989SETBP1c.2685T>A (p.Asp895Glu)
c.2763T>A (p.Asp921Glu)
c.2208T>A (p.Asp736Glu)
18g.44952025T>CCA503982195SETBP1c.2685T>C (p.Asp895=)
c.2763T>C (p.Asp921=)
c.2208T>C (p.Asp736=)
18g.44952025T>GCA402321990SETBP1c.2685T>G (p.Asp895Glu)
c.2763T>G (p.Asp921Glu)
c.2208T>G (p.Asp736Glu)
18g.44952026T>ACA402321991SETBP1c.2686T>A (p.Phe896Ile)
c.2764T>A (p.Phe922Ile)
c.2209T>A (p.Phe737Ile)
18g.44952026T>CCA402321992SETBP1c.2686T>C (p.Phe896Leu)
c.2764T>C (p.Phe922Leu)
c.2209T>C (p.Phe737Leu)
18g.44952026T>GCA402321993SETBP1c.2686T>G (p.Phe896Val)
c.2764T>G (p.Phe922Val)
c.2209T>G (p.Phe737Val)
18g.44952027T>ACA402321994SETBP1c.2687T>A (p.Phe896Tyr)
c.2765T>A (p.Phe922Tyr)
c.2210T>A (p.Phe737Tyr)
18g.44952027T>CCA402321995SETBP1c.2687T>C (p.Phe896Ser)
c.2765T>C (p.Phe922Ser)
c.2210T>C (p.Phe737Ser)
18g.44952027T>GCA402321996SETBP1c.2687T>G (p.Phe896Cys)
c.2765T>G (p.Phe922Cys)
c.2210T>G (p.Phe737Cys)
18g.44952028C>ACA402321997SETBP1c.2688C>A (p.Phe896Leu)
c.2766C>A (p.Phe922Leu)
c.2211C>A (p.Phe737Leu)
18g.44952028C>GCA402321998SETBP1c.2688C>G (p.Phe896Leu)
c.2766C>G (p.Phe922Leu)
c.2211C>G (p.Phe737Leu)
 gnomAD v4
18g.44952028C>TCA503982196SETBP1c.2688C>T (p.Phe896=)
c.2766C>T (p.Phe922=)
c.2211C>T (p.Phe737=)
18g.44952029T>ACA402321999SETBP1c.2689T>A (p.Cys897Ser)
c.2767T>A (p.Cys923Ser)
c.2212T>A (p.Cys738Ser)
18g.44952029T>CCA402322001SETBP1c.2689T>C (p.Cys897Arg)
c.2767T>C (p.Cys923Arg)
c.2212T>C (p.Cys738Arg)
18g.44952029T>GCA402322000SETBP1c.2689T>G (p.Cys897Gly)
c.2767T>G (p.Cys923Gly)
c.2212T>G (p.Cys738Gly)
18g.44952030G>ACA402322002SETBP1c.2690G>A (p.Cys897Tyr)
c.2768G>A (p.Cys923Tyr)
c.2213G>A (p.Cys738Tyr)
18g.44952030G>CCA402322003SETBP1c.2690G>C (p.Cys897Ser)
c.2768G>C (p.Cys923Ser)
c.2213G>C (p.Cys738Ser)
18g.44952030G>TCA402322004SETBP1c.2690G>T (p.Cys897Phe)
c.2768G>T (p.Cys923Phe)
c.2213G>T (p.Cys738Phe)
18g.44952031C>ACA402322005SETBP1c.2691C>A (p.Cys897Ter)
c.2769C>A (p.Cys923Ter)
c.2214C>A (p.Cys738Ter)
18g.44952031C>GCA402322006SETBP1c.2691C>G (p.Cys897Trp)
c.2769C>G (p.Cys923Trp)
c.2214C>G (p.Cys738Trp)
18g.44952031C>TCA503982197SETBP1c.2691C>T (p.Cys897=)
c.2769C>T (p.Cys923=)
c.2214C>T (p.Cys738=)
 COSMIC
18g.44952032T>ACA402322007SETBP1c.2692T>A (p.Ser898Thr)
c.2770T>A (p.Ser924Thr)
c.2215T>A (p.Ser739Thr)
18g.44952032T>CCA402322009SETBP1c.2692T>C (p.Ser898Pro)
c.2770T>C (p.Ser924Pro)
c.2215T>C (p.Ser739Pro)
18g.44952032T>GCA402322008SETBP1c.2692T>G (p.Ser898Ala)
c.2770T>G (p.Ser924Ala)
c.2215T>G (p.Ser739Ala)
18g.44952033C>ACA402322010SETBP1c.2693C>A (p.Ser898Tyr)
c.2771C>A (p.Ser924Tyr)
c.2216C>A (p.Ser739Tyr)
18g.44952033C>GCA402322011SETBP1c.2693C>G (p.Ser898Cys)
c.2771C>G (p.Ser924Cys)
c.2216C>G (p.Ser739Cys)
18g.44952033C>TCA402322012SETBP1c.2693C>T (p.Ser898Phe)
c.2771C>T (p.Ser924Phe)
c.2216C>T (p.Ser739Phe)
 COSMIC
18g.44952034C>ACA8945778SETBP1c.2694C>A (p.Ser898=)
c.2772C>A (p.Ser924=)
c.2217C>A (p.Ser739=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.44952034C=CA2300140816SETBP1c.2694C= (p.Ser898=)
c.2772C= (p.Ser924=)
c.2217C= (p.Ser739=)
18g.44952034C>GCA503982198SETBP1c.2694C>G (p.Ser898=)
c.2772C>G (p.Ser924=)
c.2217C>G (p.Ser739=)
18g.44952034C>TCA503982199SETBP1c.2694C>T (p.Ser898=)
c.2772C>T (p.Ser924=)
c.2217C>T (p.Ser739=)
 ClinVar gnomAD v4 COSMIC
18g.44952035C>ACA402322013SETBP1c.2695C>A (p.Leu899Met)
c.2773C>A (p.Leu925Met)
c.2218C>A (p.Leu740Met)
18g.44952035C>GCA402322014SETBP1c.2695C>G (p.Leu899Val)
c.2773C>G (p.Leu925Val)
c.2218C>G (p.Leu740Val)
18g.44952035C>TCA503982200SETBP1c.2695C>T (p.Leu899=)
c.2773C>T (p.Leu925=)
c.2218C>T (p.Leu740=)
18g.44952036T>ACA402322015SETBP1c.2696T>A (p.Leu899Gln)
c.2774T>A (p.Leu925Gln)
c.2219T>A (p.Leu740Gln)
18g.44952036T>CCA402322016SETBP1c.2696T>C (p.Leu899Pro)
c.2774T>C (p.Leu925Pro)
c.2219T>C (p.Leu740Pro)
 COSMIC
18g.44952036T>GCA402322017SETBP1c.2696T>G (p.Leu899Arg)
c.2774T>G (p.Leu925Arg)
c.2219T>G (p.Leu740Arg)
18g.44952044_44952118delCA2812309548SETBP1c.2704_2778del (p.Pro902_Asn926del)
c.2782_2856del (p.Pro928_Asn952del)
c.2227_2301del (p.Pro743_Asn767del)
18g.44952037G>ACA503982203SETBP1c.2697G>A (p.Leu899=)
c.2775G>A (p.Leu925=)
c.2220G>A (p.Leu740=)
 gnomAD v4
18g.44952037G>CCA503982202SETBP1c.2697G>C (p.Leu899=)
c.2775G>C (p.Leu925=)
c.2220G>C (p.Leu740=)
18g.44952037G=CA2300140817SETBP1c.2697G= (p.Leu899=)
c.2775G= (p.Leu925=)
c.2220G= (p.Leu740=)
18g.44952037G>TCA503982201SETBP1c.2697G>T (p.Leu899=)
c.2775G>T (p.Leu925=)
c.2220G>T (p.Leu740=)
 dbSNP
18g.44952038G>ACA402322018SETBP1c.2698G>A (p.Asp900Asn)
c.2776G>A (p.Asp926Asn)
c.2221G>A (p.Asp741Asn)
 gnomAD v4
18g.44952038G>CCA402322019SETBP1c.2698G>C (p.Asp900His)
c.2776G>C (p.Asp926His)
c.2221G>C (p.Asp741His)
18g.44952038G>TCA402322020SETBP1c.2698G>T (p.Asp900Tyr)
c.2776G>T (p.Asp926Tyr)
c.2221G>T (p.Asp741Tyr)
18g.44952039A=CA2300140818SETBP1c.2699A= (p.Asp900=)
c.2777A= (p.Asp926=)
c.2222A= (p.Asp741=)
18g.44952039A>CCA402322021SETBP1c.2699A>C (p.Asp900Ala)
c.2777A>C (p.Asp926Ala)
c.2222A>C (p.Asp741Ala)
18g.44952039A>GCA402322023SETBP1c.2699A>G (p.Asp900Gly)
c.2777A>G (p.Asp926Gly)
c.2222A>G (p.Asp741Gly)
 ClinVar dbSNP
18g.44952039A>TCA402322022SETBP1c.2699A>T (p.Asp900Val)
c.2777A>T (p.Asp926Val)
c.2222A>T (p.Asp741Val)
18g.44952040C>ACA402322024SETBP1c.2700C>A (p.Asp900Glu)
c.2778C>A (p.Asp926Glu)
c.2223C>A (p.Asp741Glu)
 ClinVar
18g.44952040C>GCA402322025SETBP1c.2700C>G (p.Asp900Glu)
c.2778C>G (p.Asp926Glu)
c.2223C>G (p.Asp741Glu)
18g.44952040C>TCA503982204SETBP1c.2700C>T (p.Asp900=)
c.2778C>T (p.Asp926=)
c.2223C>T (p.Asp741=)
 ClinVar gnomAD v4
18g.44952041A=CA2300140819SETBP1c.2701A= (p.Asn901=)
c.2779A= (p.Asn927=)
c.2224A= (p.Asn742=)
18g.44952041A>CCA402322026SETBP1c.2701A>C (p.Asn901His)
c.2779A>C (p.Asn927His)
c.2224A>C (p.Asn742His)
 dbSNP
18g.44952041A>GCA402322027SETBP1c.2701A>G (p.Asn901Asp)
c.2779A>G (p.Asn927Asp)
c.2224A>G (p.Asn742Asp)
 gnomAD v4
18g.44952041A>TCA402322028SETBP1c.2701A>T (p.Asn901Tyr)
c.2779A>T (p.Asn927Tyr)
c.2224A>T (p.Asn742Tyr)
18g.44952042A>CCA402322031SETBP1c.2702A>C (p.Asn901Thr)
c.2780A>C (p.Asn927Thr)
c.2225A>C (p.Asn742Thr)
18g.44952042A>GCA402322030SETBP1c.2702A>G (p.Asn901Ser)
c.2780A>G (p.Asn927Ser)
c.2225A>G (p.Asn742Ser)
18g.44952042A>TCA402322029SETBP1c.2702A>T (p.Asn901Ile)
c.2780A>T (p.Asn927Ile)
c.2225A>T (p.Asn742Ile)
18g.44952043C>ACA402322032SETBP1c.2703C>A (p.Asn901Lys)
c.2781C>A (p.Asn927Lys)
c.2226C>A (p.Asn742Lys)
 dbSNP
18g.44952043C=CA2300140820SETBP1c.2703C= (p.Asn901=)
c.2781C= (p.Asn927=)
c.2226C= (p.Asn742=)
18g.44952043C>GCA402322033SETBP1c.2703C>G (p.Asn901Lys)
c.2781C>G (p.Asn927Lys)
c.2226C>G (p.Asn742Lys)
18g.44952043C>TCA8945779SETBP1c.2703C>T (p.Asn901=)
c.2781C>T (p.Asn927=)
c.2226C>T (p.Asn742=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.44952044C>ACA402322034SETBP1c.2704C>A (p.Pro902Thr)
c.2782C>A (p.Pro928Thr)
c.2227C>A (p.Pro743Thr)
 gnomAD v4
18g.44952044C>GCA402322035SETBP1c.2704C>G (p.Pro902Ala)
c.2782C>G (p.Pro928Ala)
c.2227C>G (p.Pro743Ala)
18g.44952044C>TCA402322036SETBP1c.2704C>T (p.Pro902Ser)
c.2782C>T (p.Pro928Ser)
c.2227C>T (p.Pro743Ser)
 ClinVar
18g.44952045C>ACA402322037SETBP1c.2705C>A (p.Pro902Gln)
c.2783C>A (p.Pro928Gln)
c.2228C>A (p.Pro743Gln)
18g.44952045C=CA2300140821SETBP1c.2705C= (p.Pro902=)
c.2783C= (p.Pro928=)
c.2228C= (p.Pro743=)
18g.44952045C>GCA8945780SETBP1c.2705C>G (p.Pro902Arg)
c.2783C>G (p.Pro928Arg)
c.2228C>G (p.Pro743Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.44952045C>TCA8945781SETBP1c.2705C>T (p.Pro902Leu)
c.2783C>T (p.Pro928Leu)
c.2228C>T (p.Pro743Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.44952046G>ACA8945782SETBP1c.2706G>A (p.Pro902=)
c.2784G>A (p.Pro928=)
c.2229G>A (p.Pro743=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.44952046G>CCA503982205SETBP1c.2706G>C (p.Pro902=)
c.2784G>C (p.Pro928=)
c.2229G>C (p.Pro743=)
 dbSNP
18g.44952046G=CA2300140822SETBP1c.2706G= (p.Pro902=)
c.2784G= (p.Pro928=)
c.2229G= (p.Pro743=)
18g.44952046G>TCA503982206SETBP1c.2706G>T (p.Pro902=)
c.2784G>T (p.Pro928=)
c.2229G>T (p.Pro743=)
 gnomAD v4
18g.44952047G>ACA402322038SETBP1c.2707G>A (p.Glu903Lys)
c.2785G>A (p.Glu929Lys)
c.2230G>A (p.Glu744Lys)
18g.44952047G>CCA402322039SETBP1c.2707G>C (p.Glu903Gln)
c.2785G>C (p.Glu929Gln)
c.2230G>C (p.Glu744Gln)
18g.44952047G>TCA402322040SETBP1c.2707G>T (p.Glu903Ter)
c.2785G>T (p.Glu929Ter)
c.2230G>T (p.Glu744Ter)
18g.44952048A>CCA402322041SETBP1c.2708A>C (p.Glu903Ala)
c.2786A>C (p.Glu929Ala)
c.2231A>C (p.Glu744Ala)
18g.44952048A>GCA402322042SETBP1c.2708A>G (p.Glu903Gly)
c.2786A>G (p.Glu929Gly)
c.2231A>G (p.Glu744Gly)
18g.44952048A>TCA402322043SETBP1c.2708A>T (p.Glu903Val)
c.2786A>T (p.Glu929Val)
c.2231A>T (p.Glu744Val)
18g.44952049G>ACA8945783SETBP1c.2709G>A (p.Glu903=)
c.2787G>A (p.Glu929=)
c.2232G>A (p.Glu744=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.44952049G>CCA402322044SETBP1c.2709G>C (p.Glu903Asp)
c.2787G>C (p.Glu929Asp)
c.2232G>C (p.Glu744Asp)
18g.44952049G=CA2300140823SETBP1c.2709G= (p.Glu903=)
c.2787G= (p.Glu929=)
c.2232G= (p.Glu744=)
18g.44952049G>TCA402322045SETBP1c.2709G>T (p.Glu903Asp)
c.2787G>T (p.Glu929Asp)
c.2232G>T (p.Glu744Asp)
18g.44952050G>ACA402322046SETBP1c.2710G>A (p.Ala904Thr)
c.2788G>A (p.Ala930Thr)
c.2233G>A (p.Ala745Thr)
18g.44952050G>CCA402322048SETBP1c.2710G>C (p.Ala904Pro)
c.2788G>C (p.Ala930Pro)
c.2233G>C (p.Ala745Pro)
18g.44952050G>TCA402322047SETBP1c.2710G>T (p.Ala904Ser)
c.2788G>T (p.Ala930Ser)
c.2233G>T (p.Ala745Ser)
18g.44952051C>ACA402322049SETBP1c.2711C>A (p.Ala904Asp)
c.2789C>A (p.Ala930Asp)
c.2234C>A (p.Ala745Asp)
18g.44952051C>GCA402322051SETBP1c.2711C>G (p.Ala904Gly)
c.2789C>G (p.Ala930Gly)
c.2234C>G (p.Ala745Gly)
18g.44952051C>TCA402322050SETBP1c.2711C>T (p.Ala904Val)
c.2789C>T (p.Ala930Val)
c.2234C>T (p.Ala745Val)
18g.44952052C>ACA503982207SETBP1c.2712C>A (p.Ala904=)
c.2790C>A (p.Ala930=)
c.2235C>A (p.Ala745=)
18g.44952052C>GCA503982208SETBP1c.2712C>G (p.Ala904=)
c.2790C>G (p.Ala930=)
c.2235C>G (p.Ala745=)
18g.44952052C>TCA503982209SETBP1c.2712C>T (p.Ala904=)
c.2790C>T (p.Ala930=)
c.2235C>T (p.Ala745=)
 COSMIC
18g.44952053A=CA2300140824SETBP1c.2713A= (p.Ile905=)
c.2791A= (p.Ile931=)
c.2236A= (p.Ile746=)
18g.44952053A>CCA402322052SETBP1c.2713A>C (p.Ile905Leu)
c.2791A>C (p.Ile931Leu)
c.2236A>C (p.Ile746Leu)
 gnomAD v4
18g.44952053A>GCA402322053SETBP1c.2713A>G (p.Ile905Val)
c.2791A>G (p.Ile931Val)
c.2236A>G (p.Ile746Val)
 dbSNP gnomAD v4
18g.44952053A>TCA402322054SETBP1c.2713A>T (p.Ile905Phe)
c.2791A>T (p.Ile931Phe)
c.2236A>T (p.Ile746Phe)
18g.44952054T>ACA402322055SETBP1c.2714T>A (p.Ile905Asn)
c.2792T>A (p.Ile931Asn)
c.2237T>A (p.Ile746Asn)
18g.44952054T>CCA8945784SETBP1c.2714T>C (p.Ile905Thr)
c.2792T>C (p.Ile931Thr)
c.2237T>C (p.Ile746Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.44952054T>GCA402322056SETBP1c.2714T>G (p.Ile905Ser)
c.2792T>G (p.Ile931Ser)
c.2237T>G (p.Ile746Ser)
18g.44952054T=CA2300140825SETBP1c.2714T= (p.Ile905=)
c.2792T= (p.Ile931=)
c.2237T= (p.Ile746=)
18g.44952055T>ACA503982210SETBP1c.2715T>A (p.Ile905=)
c.2793T>A (p.Ile931=)
c.2238T>A (p.Ile746=)
18g.44952055T>CCA503982211SETBP1c.2715T>C (p.Ile905=)
c.2793T>C (p.Ile931=)
c.2238T>C (p.Ile746=)
18g.44952055T>GCA402322057SETBP1c.2715T>G (p.Ile905Met)
c.2793T>G (p.Ile931Met)
c.2238T>G (p.Ile746Met)
 gnomAD v4
18g.44952055_44952056insGGCA2695227486SETBP1c.2715_2716insGG (p.Pro906GlyfsTer?)
c.2793_2794insGG (p.Pro932GlyfsTer?)
c.2238_2239insGG (p.Pro747GlyfsTer?)
18g.44952056C>ACA402322058SETBP1c.2716C>A (p.Pro906Thr)
c.2794C>A (p.Pro932Thr)
c.2239C>A (p.Pro747Thr)
 dbSNP gnomAD v2 gnomAD v4
18g.44952056C=CA2300140826SETBP1c.2716C= (p.Pro906=)
c.2794C= (p.Pro932=)
c.2239C= (p.Pro747=)
18g.44952056C>GCA402322059SETBP1c.2716C>G (p.Pro906Ala)
c.2794C>G (p.Pro932Ala)
c.2239C>G (p.Pro747Ala)
18g.44952056C>TCA402322060SETBP1c.2716C>T (p.Pro906Ser)
c.2794C>T (p.Pro932Ser)
c.2239C>T (p.Pro747Ser)
18g.44952056delinsGGCCATTGGCA2695227487SETBP1c.2716delinsGGCCATTGG (p.Pro906GlyfsTer?)
c.2794delinsGGCCATTGG (p.Pro932GlyfsTer?)
c.2239delinsGGCCATTGG (p.Pro747GlyfsTer?)
18g.44952057delCA2695227485SETBP1c.2717del (p.Pro906ArgfsTer?)
c.2795del (p.Pro932ArgfsTer?)
c.2240del (p.Pro747ArgfsTer?)
18g.44952056_44952057insGGCA2695227488SETBP1c.2716_2717insGG (p.Pro906ArgfsTer?)
c.2794_2795insGG (p.Pro932ArgfsTer?)
c.2239_2240insGG (p.Pro747ArgfsTer?)
18g.44952057C>ACA402322062SETBP1c.2717C>A (p.Pro906Gln)
c.2795C>A (p.Pro932Gln)
c.2240C>A (p.Pro747Gln)
18g.44952057C=CA2300140827SETBP1c.2717C= (p.Pro906=)
c.2795C= (p.Pro932=)
c.2240C= (p.Pro747=)
18g.44952057C>GCA402322061SETBP1c.2717C>G (p.Pro906Arg)
c.2795C>G (p.Pro932Arg)
c.2240C>G (p.Pro747Arg)
 dbSNP gnomAD v2 gnomAD v4
18g.44952057C>TCA8945785SETBP1c.2717C>T (p.Pro906Leu)
c.2795C>T (p.Pro932Leu)
c.2240C>T (p.Pro747Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.44952057delinsGGCA2695227489SETBP1c.2717delinsGG (p.Pro906ArgfsTer?)
c.2795delinsGG (p.Pro932ArgfsTer?)
c.2240delinsGG (p.Pro747ArgfsTer?)
18g.44952058G>ACA8945786SETBP1c.2718G>A (p.Pro906=)
c.2796G>A (p.Pro932=)
c.2241G>A (p.Pro747=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.44952058G>CCA503982213SETBP1c.2718G>C (p.Pro906=)
c.2796G>C (p.Pro932=)
c.2241G>C (p.Pro747=)
18g.44952058G=CA2300140828SETBP1c.2718G= (p.Pro906=)
c.2796G= (p.Pro932=)
c.2241G= (p.Pro747=)
18g.44952058G>TCA503982212SETBP1c.2718G>T (p.Pro906=)
c.2796G>T (p.Pro932=)
c.2241G>T (p.Pro747=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.44952058dupCA2695227490SETBP1c.2718dup (p.Ser907ValfsTer?)
c.2796dup (p.Ser933ValfsTer?)
c.2241dup (p.Ser748ValfsTer?)
18g.44952059T>ACA402322063SETBP1c.2719T>A (p.Ser907Thr)
c.2797T>A (p.Ser933Thr)
c.2242T>A (p.Ser748Thr)
18g.44952059T>CCA402322064SETBP1c.2719T>C (p.Ser907Pro)
c.2797T>C (p.Ser933Pro)
c.2242T>C (p.Ser748Pro)
 gnomAD v4
18g.44952059T>GCA402322065SETBP1c.2719T>G (p.Ser907Ala)
c.2797T>G (p.Ser933Ala)
c.2242T>G (p.Ser748Ala)
18g.44952060C>ACA402322066SETBP1c.2720C>A (p.Ser907Tyr)
c.2798C>A (p.Ser933Tyr)
c.2243C>A (p.Ser748Tyr)
18g.44952060C=CA2300140829SETBP1c.2720C= (p.Ser907=)
c.2798C= (p.Ser933=)
c.2243C= (p.Ser748=)
18g.44952060C>GCA8945787SETBP1c.2720C>G (p.Ser907Cys)
c.2798C>G (p.Ser933Cys)
c.2243C>G (p.Ser748Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.44952060C>TCA402322067SETBP1c.2720C>T (p.Ser907Phe)
c.2798C>T (p.Ser933Phe)
c.2243C>T (p.Ser748Phe)
18g.44952061C>ACA503982214SETBP1c.2721C>A (p.Ser907=)
c.2799C>A (p.Ser933=)
c.2244C>A (p.Ser748=)
 dbSNP gnomAD v2 gnomAD v4
18g.44952061C=CA2300140830SETBP1c.2721C= (p.Ser907=)
c.2799C= (p.Ser933=)
c.2244C= (p.Ser748=)
18g.44952061C>GCA503982215SETBP1c.2721C>G (p.Ser907=)
c.2799C>G (p.Ser933=)
c.2244C>G (p.Ser748=)
18g.44952061C>TCA8945788SETBP1c.2721C>T (p.Ser907=)
c.2799C>T (p.Ser933=)
c.2244C>T (p.Ser748=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched